A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia

Br J Haematol. 2002 Jun;117(4):878-81. doi: 10.1046/j.1365-2141.2002.03512.x.


The RUNX1 (AML1, CBFA2) gene is a member of the runt transcription factor family, responsible for DNA binding and heterodimerization of other non-DNA binding transcription factors. RUNX1 plays an important part in regulating haematopoiesis and it is frequently disrupted by illegitimate somatic recombination in both acute myeloid and lymphoblastic leukaemia. Germline mutations of RUNX1 have also recently been described and are dominantly associated with inherited leukaemic conditions. We have identified a unique point mutation of the RUNX1 gene (A107P) in members of a family with autosomal dominant inheritance of thrombocytopenia. One member has developed acute myeloid leukaemia (AML).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acute Disease
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Hematopoiesis / genetics
  • Humans
  • Leukemia, Myeloid / blood
  • Leukemia, Myeloid / genetics*
  • Male
  • Pedigree
  • Platelet Function Tests
  • Point Mutation*
  • Proto-Oncogene Proteins*
  • Thrombocytopenia / blood
  • Thrombocytopenia / genetics*
  • Transcription Factors / genetics*


  • Core Binding Factor Alpha 2 Subunit
  • DNA-Binding Proteins
  • Proto-Oncogene Proteins
  • RUNX1 protein, human
  • Transcription Factors